ArticleHuman genetics2010
Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 31 citations in OpenAlex.
- Copy number variant analysis for syndromic congenital heart disease in the Chinese population.Human genomics · 2022Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Yield of comparative genomic hybridization microarray in pediatric neurology practice.Neurology. Genetics · 2019Article
- Whole exome sequencing in recurrent early pregnancy loss.Molecular human reproduction · 2016Article
- From Learning to Memory: What Flies Can Tell Us about Intellectual Disability Treatment.Frontiers in psychiatry · 2015Review
- Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability.Molecular cytogenetics · 2014Article
- Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.Molecular syndromology · 2013Article
- Progress and challenges in the computational prediction of gene function using networks: 2012-2013 update.F1000Research · 2013Article
- Computational tools for prioritizing candidate genes: boosting disease gene discovery.Nature reviews. Genetics · 2012Review
- Progress and challenges in the computational prediction of gene function using networks.F1000Research · 2012Article
- 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.European journal of human genetics : EJHG · 2011Article
- Understanding the impact of 1q21.1 copy number variant.Orphanet journal of rare diseases · 2011Article
- CNV-WebStore: online CNV analysis, storage and interpretation.BMC bioinformatics · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
Array CGH enables the detection of pathogenic copy number variants (CNVs) in 5-15% of individuals with intellectual disability (ID), making it a promising tool for uncovering ID candidate genes. However, most CNVs encompass multiple genes, making it difficult to identify key disease gene(s) underlying ID etiology. Using array CGH we identified 47 previously unreported unique CNVs in 45/255 probands. We prioritized ID candidate genes using five bioinformatic gene prioritization web tools. Gene priority lists were created by comparing integral genes from each CNV from our ID cohort with sets of training genes specific either to ID or randomly selected. Our findings suggest that different training sets alter gene prioritization only moderately; however, only the ID gene training set resulted in significant enrichment of genes with nervous system function (19%) in prioritized versus non-prioritized genes from the same de novo CNVs (7%, p < 0.05). This enrichment further increased to 31% when the five web tools were used in concert and included genes within mitogen-activated protein kinase (MAPK) and neuroactive ligand-receptor interaction pathways. Gene prioritization web tools enrich for genes with relevant function in ID and more readily facilitate the selection of ID candidate genes for functional studies, particularly for large CNVs.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.